Gil Ana Teresa, Brett Ana, Cordinhã Carolina, Gomes Clara
Pediatric Nephrology Unit, Pediatric Hospital Carmona da Mota, Hospital Center and University of Coimbra, Coimbra, Portugal.
BMJ Case Rep. 2013 Jul 12;2013:bcr2013010015. doi: 10.1136/bcr-2013-010015.
Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder characterised by seizures, mental retardation and hamartoma formation in multiple organs, mainly in the brain, skin, kidney, liver, lung and heart. Renal manifestations occur in about 60-80% of all patients with TSC and their rate increases with age. We report the case of a 17-year-old boy with tuberous sclerosis who presented with abdominal pain associated with kidney failure. Investigation revealed bilateral renal lesions, suggesting angiomyolipomas. On further work-up, malignancy was suspected and the patient underwent bilateral partial nephrectomy with histological diagnosis of bilateral renal cell carcinoma. This is a rare complication of TSC, particularly in a paediatric setting. Adequate surveillance of kidney disorders in patients with TSC is warranted, to guarantee an early diagnosis and treatment.
结节性硬化症（TSC）是一种遗传性神经皮肤疾病，其特征为癫痫发作、智力迟钝以及多个器官（主要是脑、皮肤、肾脏、肝脏、肺和心脏）出现错构瘤。约60%-80%的TSC患者会出现肾脏表现，且其发生率随年龄增长而增加。我们报告了一例17岁结节性硬化症男孩的病例，该男孩出现与肾衰竭相关的腹痛。检查发现双侧肾脏病变，提示为血管平滑肌脂肪瘤。进一步检查后怀疑为恶性肿瘤，该患者接受了双侧部分肾切除术，组织学诊断为双侧肾细胞癌。这是TSC的一种罕见并发症，尤其是在儿科病例中。对TSC患者的肾脏疾病进行充分监测是必要的，以确保早期诊断和治疗。
